Abstract Objectives There is limited research on thyroid function in pediatric patients with cystic fibrosis (pwCF). This study aimed to determine the frequency of dysfunction children and adolescents CF evaluate iodine deficiency selenium status pwCF. Methods Sixty-two 62 control subjects were evaluated. The anthropometric measurements, nutritional status, FEV1(Forced-expiratory-volume 1 s) percentage, tests (TSH, FT4, FT3), urinary levels, hospitalization last six months, antibiotic usage,...

Introduction Leydig cell hypoplasia (LCH) is an autosomal recessive disease that causes 46, XY sex development disorder. The patients with LCH are usually in the female phenotype and presented complaints of no breast primary amenorrhea. In this article, cases three siblings who amenorrhea had were presented.Case A 16-year-old patient Breast was at Tanner stage 1, external genitalia completely phenotype. karyotype determined as XY. hormonal analyses revealed testosterone synthesis...

Aromatase deficiency is a rare autosomal recessive genetic disorder with an unknown incidence.Aromatase converts androgens into estrogen in the gonadal and extra-gonadal tissues.Aromatase causes ambiguous genitalia female fetus maternal virilization (hirsutism, acne, cliteromegaly, deep voice) during pregnancy due to increased concentration of androgens.A 19 months old girl patient was assessed presence genitalia.There were findings pregnancy.The karyotype 46,XX.Congenital adrenal...

To evaluate the clinical characteristics and treatment options of neonates requiring prolonged hospitalization due to persistent hyperinsulinemic hypoglycemia (HH).This retrospective cohort study included infants >34 weeks gestation at birth who were born in our hospital between 2018 2021, diagnosed with HH, required diazoxide within first 28 days life. The baseline characteristics, age time diagnosis resistance cases recorded. Genetic mutation analysis, if performed, was also included.A...

Giriş: Bu çalışmanın amacı çocuk yoğun bakım ünitesi (ÇYBÜ)'ne yatarak tedavi gören zehirlenme olgularının demografik, epidemiyolojik ve klinik özelliklerinin değerlendirilmesidir. Yöntemler: ÇYBÜ'de 1 Ocak 2015 30 Haziran 2016 tarihleri arasında olguları geriye dönük olarak değerlendirildi.Bulgular: Çalışmaya 92 olgu dahil edildi.Ortalama yaş 63,65±59, ay olup, olguların %73,9'unu 5 altındaki çocuklar oluşturmaktaydı.Olguların %55,4'ü erkekti.Zehirlenmelerin %82,6'sı kaza sonucu, %14,1'i...

Aims: 17α-hydroxylase deficiency is a rare form of congenital adrenal hyperplasia (CAH) which inherited autosomal recessive. It occurs result mutations in gene cytochrome (CYP)17A1, encodes both and 17,20-lyase enzymes. The main clinical findings the disease are delayed puberty, primary amenorrhea females, disorders sex development (DSD) males. Also, hypertension hypokalemia can be seen sexes. In this paper, we describe genetic changes two patients with 46,XY 46,XX karyotypes from different...

What is already known on this topic?The incidence of type 1 diabetes mellitus (T1D) in children has an increasing trend with a variable rate, depending region and ethnicity. study adds?This the first report examining change rate pediatric T1D clinical presentation characteristics cases Diyarbakır over ten-year period.It also to 0-18 age group Diyarbakır.

BACKGROUND: There are not enough studies investigating the relationship between obesity and ECG abnormalities in children adolescents. This study aims to investigate electrocardiographic data adolescents for early diagnosis prevent arrhythmia or sudden death later stages of life.PATIENTS AND METHODS: A total 65 with applied our pediatric endocrinology outpatient clinic nonspecific complaints without any known chronic illnesses; 76 healthy were included study. Anthropometric laboratory data,...

Congenital generalized lipodystrophy (CGL) is a rare, autosomal recessive disorder characterized by an almost complete absence of body fat. In CGL, patients may have hyperphagia due to leptin deficiency. Recombinant human (metreleptin) has been suggested as effective treatment option. We present successful with metreleptin in boy CGL and results from the first year follow-up. An eight-month-old presented excessive hair growth muscular appearance. On examination he had hypertrichosis,...

GEREÇ ve YÖNTEM: Konjenital hipotiroidi tanısı ile en az 3 yıl takip edilen 106 hasta (42 kız, 64 erkek) çalışmaya alındı.Hastaların dosyaları retrospektrif olarak tarandı.Tanı anında, tedavinin birinci, ikinci üçüncü yılında tedavi kesildikten 4-6 hafta sonra bakılan TSH, FT4, FT3, boy SDS, kilo SDS

Amaç: Bu çalışmada, obez çocuk ve adölesanlarda tiroid fonksiyonları ile metabolik antropometrik parametreler arasındaki ilişkinin değerlendirilmesi amaçlanmıştır. Yöntemler: Çalışmaya pediatrik endokrinoloji polikliniğinde eksojen obezite tanısı konulan 147 hasta benzer yaş cinsiyette 46 sağlıklı birey alındı. Obez hastalar Grup 1 (karaciğerde yağlanma olmayan) 2 olan) olarak iki gruba ayrıldı. Hasta kontrol grubundaki (Grup 3) tüm vakalardan açlık glukoz, insülin, total...

Observation: Neuroblastoma; is a tumour localized in adrenal medulla and sympathetic ganglions.It originated from primitive neural crest cells.It the most common extra cranial solid childhood.Etiology not exactly known.Mostly, primary abdomen.The skin metastases are clinically manifested as hyperemic, purple, well bordered obvious nodules.We presented two-month-old infant case of neuroblastoma with cutaneous metastasis.We decided to report this for rarely seen there few reports literature.

ve Yoğun Bakım Dergisi, Galenos Yayınevi

Neonatal diabetes mellitus is a rare monogenic form of that develops in the first 6 months life. commonly divided two groups as transient and permanent. Genetic epigenetic anomalies chromosome 6q24 locus are responsible for 70% neonatal cases. Incidence macroglossia, umbilical hernia, cardiac renal increased patients. Mutations genes (ABCC8 KCNJ11) encoding protein subunits (SUR1 Kir6.2) ATP-sensitive potassium channels constitute second common cause mellitus. In this article, we present...

ve Yoğun Bakım Dergisi, Galenos Yayınevi

Abstract Aim Triple-A Syndrome(TAS) is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia, and alacrimia. This caused mutations in the AAAS gene. The aim of this study to discuss clinical, laboratory molecular genetic analysis results who were diagnosed with TAS. Method We evaluated 12 patients from 8 families. All exons exon-intron junctions gene next generation sequencing method. Detected variants classified according American Collage Medical Genetics...